論文

国際誌
2021年8月5日

Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.

The journal of obstetrics and gynaecology research
  • Yuna Sasaki
  • ,
  • Takahiro Yamada
  • ,
  • Shiro Tanaka
  • ,
  • Akihiko Sekizawa
  • ,
  • Tatsuko Hirose
  • ,
  • Nobuhiro Suzumori
  • ,
  • Takashi Kaji
  • ,
  • Satoshi Kawaguchi
  • ,
  • Yasuyuki Hasuo
  • ,
  • Haruki Nishizawa
  • ,
  • Keiichi Matsubara
  • ,
  • Haruka Hamanoue
  • ,
  • Akimune Fukushima
  • ,
  • Masayuki Endo
  • ,
  • Masayuki Yamaguchi
  • ,
  • Yoshimasa Kamei
  • ,
  • Hideaki Sawai
  • ,
  • Kiyonori Miura
  • ,
  • Masaki Ogawa
  • ,
  • Shinya Tairaku
  • ,
  • Hiroaki Nakamura
  • ,
  • Ayako Sanui
  • ,
  • Masahito Mizuuchi
  • ,
  • Yoko Okamoto
  • ,
  • Michihiro Kitagawa
  • ,
  • Yukie Kawano
  • ,
  • Hisashi Masuyama
  • ,
  • Jun Murotsuki
  • ,
  • Hisao Osada
  • ,
  • Ryuhei Kurashina
  • ,
  • Osamu Samura
  • ,
  • Mayuko Ichikawa
  • ,
  • Rumi Sasaki
  • ,
  • Kazuhisa Maeda
  • ,
  • Yasuyo Kasai
  • ,
  • Tomomi Yamazaki
  • ,
  • Reiko Neki
  • ,
  • Naoki Hamajima
  • ,
  • Yukiko Katagiri
  • ,
  • Shunichiro Izumi
  • ,
  • Setsuko Nakayama
  • ,
  • Norio Miharu
  • ,
  • Yuko Yokohama
  • ,
  • Masaya Hirose
  • ,
  • Kosuke Kawakami
  • ,
  • Kiyotake Ichizuka
  • ,
  • Masakatsu Sase
  • ,
  • Kohei Sugimoto
  • ,
  • Takeshi Nagamatsu
  • ,
  • Tomomi Shiga
  • ,
  • Lena Tashima
  • ,
  • Takeshi Taketani
  • ,
  • Mariko Matsumoto
  • ,
  • Hironori Hamada
  • ,
  • Takafumi Watanabe
  • ,
  • Tetsuya Okazaki
  • ,
  • Sadahiko Iwamoto
  • ,
  • Daisuke Katsura
  • ,
  • Nobuo Ikenoue
  • ,
  • Toshiyuki Kakinuma
  • ,
  • Hiromi Hamada
  • ,
  • Makiko Egawa
  • ,
  • Atsushi Kasamatsu
  • ,
  • Akinori Ida
  • ,
  • Naohiko Kuno
  • ,
  • Naoaki Kuji
  • ,
  • Mika Ito
  • ,
  • Hiroko Morisaki
  • ,
  • Shinji Tanigaki
  • ,
  • Hiromi Hayakawa
  • ,
  • Akinori Miki
  • ,
  • Shoko Sasaki
  • ,
  • Makoto Saito
  • ,
  • Naoki Yamada
  • ,
  • Toshiyuki Sasagawa
  • ,
  • Toshitaka Tanaka
  • ,
  • Fumiki Hirahara
  • ,
  • Shinji Kosugi
  • ,
  • Haruhiko Sago

47
10
開始ページ
3437
終了ページ
3446
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/jog.14954

AIM: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high-risk pregnant women. METHODS: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age-specific PPV and NPV were estimated. RESULTS: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78-99.96), 99.12% (95% CI: 96.83-99.76), and 100% (95% CI: 88.30-100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age-specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. CONCLUSION: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high-risk pregnant women, and maternal age-specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan.

リンク情報
DOI
https://doi.org/10.1111/jog.14954
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/34355471
ID情報
  • DOI : 10.1111/jog.14954
  • PubMed ID : 34355471

エクスポート
BibTeX RIS